Canonical Allele Identifier: CA3012298875

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576084T>A , CM000664.2:g.240576084T>A	GRCh38
NC_000002.11:g.241515501T>A , CM000664.1:g.241515501T>A	GRCh37
NC_000002.10:g.241164174T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-451T>A MANE Select	ENSP00000270357.4:n.1511-451T>A
ENST00000270357.8:c.818-451T>A	ENSP00000270357.3:n.818-451T>A
ENST00000437406.1:c.109+474T>A	ENSP00000403319.1:n.109+474T>A
ENST00000451363.5:c.152-451T>A	ENSP00000414661.1:n.152-451T>A
ENST00000464550.5:n.347-451T>A
ENST00000471657.1:n.314-451T>A
ENST00000481757.5:n.1994T>A
ENST00000486058.5:n.1624-451T>A
ENST00000493398.5:n.657-451T>A
NM_018226.4:c.1511-451T>A	NP_060696.4:n.1511-451T>A
XM_005247036.3:c.1510+474T>A	XP_005247093.1:n.1510+474T>A
NM_018226.5:c.1511-451T>A	NP_060696.4:n.1511-451T>A
XM_005247036.4:c.1510+474T>A	XP_005247093.1:n.1510+474T>A
NM_018226.6:c.1511-451T>A MANE Select	NP_060696.4:n.1511-451T>A